BRCA1为近期发现的乳腺癌 卵巢癌易感基因 ,与遗传性乳腺癌 /卵巢癌的发生密切相关。BRCA1相关乳腺癌发病早、双侧比例高、复发率高、可伴有其它肿瘤 ,表现为乳腺癌综合征。预后存在争议。其组织学分级较高、细胞分裂增殖活跃 ,侵袭性较强 ,组织学类型以髓样癌和 /或非典型髓样癌多见 ,P5 3突变较常见。BRCA1突变筛查已经开始应用于临床 ,但其大规模应用尚存在一定的局限性。 BRCA1 is a recently discovered breast cancer susceptibility gene, which is closely related to the occurrence of hereditary breast/ovarian cancer. BRCA1-related breast cancer has an early onset, high bilateral ratio, high recurrence rate, and may be associated with other tumors, manifesting as breast cancer syndrome. The prognosis is controversial. The histological grade is higher, cell division and proliferation are more active, and the invasiveness is stronger. The histological type is more common in medullary carcinoma and/or atypical medullary carcinoma. P53 mutation is more common. The mutation screening of BRCA1 has already begun to be applied in clinical practice, but its large-scale application still has some limitations.